V205A (p.Val205Ala) variant of NKX2-1 (Homeobox protein Nkx-2.1)
V205A (p.Val205Ala) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brain-lung-thyroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
V205A (p.Val205Ala) variant details
- p.Val205Ala
- rs2139407297
- ClinGen CA389459234
- ClinVar RCV003237298
- Likely pathogenic
- Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Brain-lung-thyroid syndrome)
- EBI: Likely pathogenic (in CAHTP)
- UniProt: Likely pathogenic (in CAHTP)
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)